ClinVar Miner

List of variants in gene PSEN1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.480+223A>G rs214269 0.74864
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.869-263C>A rs165934 0.61331
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_000021.4(PSEN1):c.1129+225A>G rs28660183 0.13213
NM_000021.4(PSEN1):c.1130-193G>T rs2272585 0.11735
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_000021.4(PSEN1):c.956-264G>A rs362377 0.09907
NM_000021.4(PSEN1):c.338+206T>C rs362355 0.08573
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000021.4(PSEN1):c.1129+151T>C rs867230071 0.06588
NM_000021.4(PSEN1):c.955+200T>C rs362374 0.03945
NM_000021.4(PSEN1):c.770-21T>C rs3025786 0.03618
NM_000021.4(PSEN1):c.*364T>C rs362385 0.03451
NM_000021.4(PSEN1):c.548+212A>T rs77983620 0.03109
NM_000021.4(PSEN1):c.480+144C>T rs72734456 0.02983
NM_000021.4(PSEN1):c.*3889G>A rs17125952 0.02429
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000021.4(PSEN1):c.339-245A>G rs80331025 0.00979
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000021.4(PSEN1):c.1234G>A (p.Val412Ile) rs200525059 0.00002
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1129+113T>C
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.221C>T (p.Thr74Ile) rs2140036934
NM_000021.4(PSEN1):c.427_429del (p.Ile143del) rs773231702
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu) rs1566638724
NM_000021.4(PSEN1):c.87+252G>A rs34623110
NM_000021.4(PSEN1):c.935A>C (p.Asn312Thr)
NM_000021.4(PSEN1):c.956-217_956-216insA

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